Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case. |
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| Authors: | Judit Horvath Pierre R Burkhard Michael Morris Armand Bottani Isabelle Moix Jacqueline Delavelle |
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| Affiliation: | 1. Department of Neurology, Geneva University Hospitals and Medical School, Geneva, SwitzerlandDepartment of Neurology, Geneva University Hospital, Rue Micheli‐du‐Crest 24, 1211 Geneva 14, Switzerland;2. Medical Genetics, Geneva University Hospitals and Medical School, Geneva, Switzerland;3. Radiology Geneva University Hospitals and Medical School, Geneva, Switzerland;4. Department of Neurology, Geneva University Hospitals and Medical School, Geneva, Switzerland |
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| Abstract: | We report an original case of fragile X‐associated tremor/ataxia syndrome in a female carrier, who had been misdiagnosed for years because of unusual features mimicking other movement or cerebrovascular disorders. She exhibited features that have not been previously described, including voice and head tremor as well as spasmodic laryngeal dystonia. Brain MRI showed widespread leukoencephalopathy reminiscent of vascular encephalopathy, exemplifying the diversity of MRI abnormalities that could be associated with the condition. © 2007 Movement Disorder Society |
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| Keywords: | fragile X tremor laryngeal dystonia ataxia |
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